A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677434



Internal ID21703755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219014502..219014502hg38UCSC Ensembl
chr2:219879224..219879224hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17220658
Samples
Known GenesCCDC108, LOC100129175
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5677434
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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